We report a 30-year-old man with very-long-chain
acyl-coenzyme A deficiency presenting recurrent
rhabdomyolysis. Since the age of 18-year-old, he had noticed recurrent episodes of exercise induced limb
muscle pain, limb weakness and dark colored urine. At 29-year-old, he developed the same symptoms, and was referred to our hospital for further examinations under a diagnosis of recurrent
rhabdomyolysis. He had no history of
trauma, administration of drugs,
infections and other factors causing
rhabdomyolysis. There were no similar cases in his household. Neurological examinations on admission revealed no abnormal findings. Routine laboratory findings only showed mildly elevated levels of muscle-origin
enzymes including CK and
aldolase. Ischemic forearm exercise test showed normal levels of
lactate and
pyruvate in resting state, and normal response after exercise. Organic
acids in urine at asymptomatic period were normal. Total
carnitine and acyl-
carnitine levels in serum were low. Electrospray tandem mass spectrometry in dried blood spots and serum identified elevated level of tetradecenoic
acid (C14:1), and
palmitoyl-CoA dehydrogenase activity of lymphocytes was deficient. Based on these data, we made a diagnosis of very-long-chain
acyl-coenzyme A (
VLCAD) deficiency in this patient. Several reports showed that muscular form (adult onset form) of
VLCAD deficiency demonstrated recurrent
rhabdomyolysis, but true 'adult-onset' case with
VLCAD deficiency have been rarely reported. We emphasize that muscular form of
VLCAD deficiency should be regarded as one of the causes of recurrent
rhabdomyolysis in adult.